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Updated: Jul 5, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Published on: April 4, 2018

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以下一代测序为基础的基因组测试,用于检测与原发性开角青光眼相关的罕见变异和低形态等位基因

Elena Milla1,2, Javier Laguna3, Mª Socorro Alforja1

  • 1Glaucoma Unit, Department of Ophthalmology, ICOF, Hospital Clínic de Barcelona, Barcelona, Spain.

PloS one
|January 19, 2024
PubMed
概括

下一代测序在初级开角玻璃眼 (POAG) 患者中的CYP1B1和SIX6等基因中发现了罕见的遗传变异和低形态等位基因. 这些发现可能有助于对这种复杂的遗传性眼病的早期分子诊断和治疗策略.

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